Department of Ophthalmology, Eye Institute, Affiliated Hospital of Nantong University, Nantong, Jiangsu Province, China.
Indian J Ophthalmol. 2023 Feb;71(2):343-349. doi: 10.4103/ijo.IJO_1226_22.
Genome-wide association studies (GWAS) have identified that single-nucleotide polymorphisms (SNPs) rs1258267 in CHAT and rs3753841 in COL11A1 are associated with primary angle-closure glaucoma (PACG). The purpose of the study was to evaluate the association of CHAT rs1258267 and COL11A1 rs3753841 with PACG. A comprehensive electronic database search was performed to include eligible studies, published from October 2010 to March 2022. By calculating summary odds ratios (ORs) and 95% confidence intervals (CI) under five genetic models, the risk of PACG related to these two SNPs could be estimated. Heterogeneity was measured with a Chi-square-based Q statistic test and the I statistic. By the Z test, we analyzed the overall effect of OR. We used funnel plots and Begg's funnel plots to evaluate the publication bias of included studies. The meta-analysis was guided by the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2020 checklist. There were eighteen studies associating CHAT rs1258267 with PACG indicating evidently decreased PACG risk in five genetic models. Thirty studies were included to demonstrate a notable increase in the risk of PACG-carrying COL11A1 rs3753841 genotypes. Subgroup analyses showed that the association of CHAT rs1258267 and COL11A1 rs3753841 with PACG was obvious in Asians, while no evidence was found to confirm this connection in Caucasians. This meta-analysis suggests that CHAT rs1258267 G/A polymorphisms could bring about a decreased risk of PACG susceptibility and COL11A1 rs3753841 G/A polymorphisms could cause an increased risk. These effects mainly manifest in Asians.
全基因组关联研究（GWAS）已经确定了 CHAT 中的单核苷酸多态性（SNP）rs1258267 和 COL11A1 中的 rs3753841 与原发性闭角型青光眼（PACG）有关。本研究旨在评估 CHAT rs1258267 和 COL11A1 rs3753841 与 PACG 的关联。通过全面的电子数据库搜索，纳入了 2010 年 10 月至 2022 年 3 月发表的合格研究。通过在五种遗传模型下计算汇总优势比（OR）和 95%置信区间（CI），可以估计与这两个 SNP 相关的 PACG 风险。通过基于卡方的 Q 统计检验和 I 统计检验来衡量异质性。通过 Z 检验分析 OR 的总体效应。我们使用漏斗图和 Begg 漏斗图评估纳入研究的发表偏倚。本 meta 分析遵循系统评价和荟萃分析的首选报告项目（PRISMA）2020 清单。有 18 项研究将 CHAT rs1258267 与 PACG 相关联，表明在五种遗传模型中 PACG 风险明显降低。纳入了 30 项研究，表明携带 COL11A1 rs3753841 基因型的 PACG 风险显著增加。亚组分析表明，CHAT rs1258267 和 COL11A1 rs3753841 与 PACG 的关联在亚洲人中明显，而在白种人中没有证据证实这种联系。这项荟萃分析表明，CHAT rs1258267 G/A 多态性可能会降低 PACG 易感性的风险，而 COL11A1 rs3753841 G/A 多态性可能会增加风险。这些影响主要表现在亚洲人中。
